Canonical Allele Identifier: CA888074

Gene: ALG6

Linked Data

• ClinVar Variation Id: 297846
• ClinVar RCV Id: RCV000605653 ; RCV000926554
• dbSNP Id: rs374146302
• ExAC: 1:63862275 T / C
• gnomAD v2: 1-63862275-T-C
• gnomAD v3: 1-63396604-T-C
• gnomAD v4: 1-63396604-T-C
• MyVariant Identifiers: chr1:g.63862275T>C (hg19) ; chr1:g.63396604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63396604T>C , CM000663.2:g.63396604T>C	GRCh38
NC_000001.10:g.63862275T>C , CM000663.1:g.63862275T>C	GRCh37
NC_000001.9:g.63634863T>C	NCBI36
NG_008925.2:g.34015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.167+7T>C MANE Select	ENSP00000263440.5:n.167+7T>C
ENST00000603108.6:c.167+7T>C	ENSP00000473934.2:n.167+7T>C
ENST00000647818.1:c.167+7T>C	ENSP00000497667.1:n.167+7T>C
ENST00000648964.1:c.83-5650T>C	ENSP00000497828.1:n.83-5650T>C
ENST00000649570.1:c.167+7T>C	ENSP00000497742.1:n.167+7T>C
ENST00000650469.1:n.558+7T>C
ENST00000650494.1:c.167+7T>C	ENSP00000497170.1:n.167+7T>C
ENST00000263440.4:c.167+7T>C	ENSP00000263440.4:n.167+7T>C
ENST00000371108.8:c.167+7T>C	ENSP00000360149.4:n.167+7T>C
ENST00000487136.2:c.*263+7T>C	ENSP00000473328.1:n.*263+7T>C
ENST00000603108.5:c.167+7T>C	ENSP00000473934.1:n.167+7T>C
NM_013339.3:c.167+7T>C	NP_037471.2:n.167+7T>C
NM_013339.4:c.167+7T>C MANE Select	NP_037471.2:n.167+7T>C